Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function

Scientific Reports
Bret A MooreAla Moshiri

Abstract

Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens. Here we present novel genes that may be causative for oculocutaneous disease in humans, discovered as part of a genome-wide screen of knockout-mice in a targeted single-gene deletion project. The International Mouse Phenotyping Consortium (IMPC) database (data release 10.0) was interrogated for all mouse strains with integument abnormalities, which were then cross-referenced individually to identify knockouts with concomitant ocular abnormalities attributed to the same targeted gene deletion. The search yielded 307 knockout strains from unique genes with integument abnormalities, 226 of which have not been previously associated with oculocutaneous conditions. Of the 307 knockout strains with integument abnormalities, 52 were determined to have ocular changes attributed to the targeted deletion, 35 of which represent novel oculocutaneous genes. Some examples of various integument abnormalities are shown, as well as two examples of knockout strains with oculocutaneous phenotypes. Each of the novel genes provided here...Continue Reading

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Citations

Jun 24, 2021·Disease Models & Mechanisms·Laura Santana GonzálezAhmed Ashour Ahmed
Jul 29, 2021·Contact Lens & Anterior Eye : the Journal of the British Contact Lens Association·Heba AleneziNicole Carnt

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BETA
imaging techniques

Software Mentioned

IMPC

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